Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.122077513C>G , CM000667.2:g.122077513C>G | GRCh38 |
| NC_000005.9:g.121413208C>G , CM000667.1:g.121413208C>G | GRCh37 |
| NC_000005.8:g.121441107C>G | NCBI36 |
| NG_008722.1:g.5848G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231004.5:c.473G>C MANE Select | ENSP00000231004.4:p.Arg158Pro | |
| ENST00000639739.2:c.473G>C | ENSP00000492324.2:p.Arg158Pro | |
| ENST00000231004.4:c.473G>C | ENSP00000231004.4:p.Arg158Pro | |
| NM_002317.5:c.473G>C | NP_002308.2:p.Arg158Pro | |
| NM_002317.6:c.473G>C | NP_002308.2:p.Arg158Pro | |
| NM_002317.7:c.473G>C MANE Select | NP_002308.2:p.Arg158Pro |